Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone

Glycogenosis VII (GSD VII) is a rare autosomal recessive glycogen storage disorder caused by mutations in the PFKM gene encoding the phosphofructokinase (PFK) enzyme. A classical form with exercise intolerance, contractures, and myoglobinuria, a severe multisystem infantile form, an hemolytic varian...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Front Neurol
Prif Awduron: Filosto, Massimiliano, Cotti Piccinelli, Stefano, Pichiecchio, Anna, Musumeci, Olimpia, Galvagni, Anna, Caria, Filomena, Gallo Cassarino, Serena, Baldelli, Enrico, Vitale, Raimondo, Padovani, Alessandro, Toscano, Antonio
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Frontiers Media S.A. 2019
Pynciau:
Neurology
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6374292/
https://ncbi.nlm.nih.gov/pubmed/30792690
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2019.00077
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg